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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

PHF6  -  PHD finger protein 6

Homo sapiens

Synonyms: BFLS, BORJ, CENP-31, KIAA1823, MGC14797, ...
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Disease relevance of PHF6


High impact information on PHF6

  • Among these, a novel, widely expressed zinc-finger (plant homeodomain (PHD)-like finger) gene (PHF6) had eight different missense and truncation mutations in seven familial and two sporadic cases of BFLS [3].

Biological context of PHF6


Regulatory relationships of PHF6


Other interactions of PHF6


  1. PHF6 mutations in T-cell acute lymphoblastic leukemia. Van Vlierberghe, P., Palomero, T., Khiabanian, H., Van der Meulen, J., Castillo, M., Van Roy, N., De Moerloose, B., Philippé, J., González-García, S., Toribio, M.L., Taghon, T., Zuurbier, L., Cauwelier, B., Harrison, C.J., Schwab, C., Pisecker, M., Strehl, S., Langerak, A.W., Gecz, J., Sonneveld, E., Pieters, R., Paietta, E., Rowe, J.M., Wiernik, P.H., Benoit, Y., Soulier, J., Poppe, B., Yao, X., Cordon-Cardo, C., Meijerink, J., Rabadan, R., Speleman, F., Ferrando, A. Nat. Genet. (2010) [Pubmed]
  2. PHF6 mutations in adult acute myeloid leukemia. Van Vlierberghe, P., Patel, J., Abdel-Wahab, O., Lobry, C., Hedvat, C.V., Balbin, M., Nicolas, C., Payer, A.R., Fernandez, H.F., Tallman, M.S., Paietta, E., Melnick, A., Vandenberghe, P., Speleman, F., Aifantis, I., Cools, J., Levine, R., Ferrando, A. Leukemia. (2010) [Pubmed]
  3. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Lower, K.M., Turner, G., Kerr, B.A., Mathews, K.D., Shaw, M.A., Gedeon, A.K., Schelley, S., Hoyme, H.E., White, S.M., Delatycki, M.B., Lampe, A.K., Clayton-Smith, J., Stewart, H., van Ravenswaay, C.M., de Vries, B.B., Cox, B., Grompe, M., Ross, S., Thomas, P., Mulley, J.C., Gécz, J. Nat. Genet. (2002) [Pubmed]
  4. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency. Birrell, G., Lampe, A., Richmond, S., Bruce, S.N., Gécz, J., Lower, K., Wright, M., Cheetham, T.D. Journal of pediatric endocrinology & metabolism : JPEM. (2003) [Pubmed]
  5. Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6. Visootsak, J., Rosner, B., Dykens, E., Schwartz, C., Hahn, K., White, S.M., Szeftel, R., Graham, J.M. J. Pediatr. (2004) [Pubmed]
  6. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. Crawford, J., Lower, K.M., Hennekam, R.C., Van Esch, H., Mégarbané, A., Lynch, S.A., Turner, G., Gécz, J. J. Med. Genet. (2006) [Pubmed]
  7. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. Vallée, D., Chevrier, E., Graham, G.E., Lazzaro, M.A., Lavigne, P.A., Hunter, A.G., Picketts, D.J. J. Med. Genet. (2004) [Pubmed]
  8. The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Turner, G., Lower, K.M., White, S.M., Delatycki, M., Lampe, A.K., Wright, M., Smith, J.C., Kerr, B., Schelley, S., Hoyme, H.E., De Vries, B.B., Kleefstra, T., Grompe, M., Cox, B., Gecz, J., Partington, M. Clin. Genet. (2004) [Pubmed]
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